Characterization of the SRD5A3-CDG Clinical Spectrum
Abstract We aimed to characterize the clinical spectrum of patients diagnosed with SRD5A3-CDG, a subtype of congenital disorders of glycosylation (CDG) due to variants in the steroid 5a-reductase type 3 (SRD5A3) gene. It presents with multi-systemic involvement including neurological disability, der...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2023-07-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100303&tlng=en |